Incidental Mutation 'IGL01946:Rpain'
ID 180963
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rpain
Ensembl Gene ENSMUSG00000018449
Gene Name RPA interacting protein
Synonyms 2400006N03Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # IGL01946
Quality Score
Status
Chromosome 11
Chromosomal Location 70861039-70868659 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70861358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 9 (H9R)
Ref Sequence ENSEMBL: ENSMUSP00000137113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018593] [ENSMUST00000035283] [ENSMUST00000108529] [ENSMUST00000108530] [ENSMUST00000108531] [ENSMUST00000154430] [ENSMUST00000171254] [ENSMUST00000167509] [ENSMUST00000169965] [ENSMUST00000178822]
AlphaFold Q9CWY9
Predicted Effect probably benign
Transcript: ENSMUST00000018593
AA Change: H9R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000018593
Gene: ENSMUSG00000018449
AA Change: H9R

DomainStartEndE-ValueType
Pfam:RPA_interact_N 8 47 1.7e-21 PFAM
Pfam:RPA_interact_M 59 127 1.1e-14 PFAM
Pfam:RPA_interact_C 136 217 2.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000035283
SMART Domains Protein: ENSMUSP00000048101
Gene: ENSMUSG00000040667

DomainStartEndE-ValueType
Pfam:Nup88 13 752 1.1e-306 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108529
AA Change: H9R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000104169
Gene: ENSMUSG00000018449
AA Change: H9R

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 48 7.6e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108530
SMART Domains Protein: ENSMUSP00000104170
Gene: ENSMUSG00000040667

DomainStartEndE-ValueType
Pfam:Nup88 11 742 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108531
SMART Domains Protein: ENSMUSP00000104171
Gene: ENSMUSG00000040667

DomainStartEndE-ValueType
Pfam:Nup88 11 747 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126815
Predicted Effect possibly damaging
Transcript: ENSMUST00000154430
AA Change: H9R

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000137113
Gene: ENSMUSG00000018449
AA Change: H9R

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 38 1.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171254
AA Change: H9R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000133243
Gene: ENSMUSG00000018449
AA Change: H9R

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 48 1.1e-23 PFAM
Pfam:RPA_interact_M 58 107 3.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167509
AA Change: H9R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000127315
Gene: ENSMUSG00000018449
AA Change: H9R

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 48 2.7e-23 PFAM
Pfam:RPA_interact_M 58 128 5.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169965
AA Change: H9R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000128903
Gene: ENSMUSG00000018449
AA Change: H9R

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 48 1e-23 PFAM
Pfam:RPA_interact_M 58 106 6e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148168
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129531
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138634
Predicted Effect probably benign
Transcript: ENSMUST00000178253
Predicted Effect probably benign
Transcript: ENSMUST00000178822
AA Change: H9R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000136592
Gene: ENSMUSG00000018449
AA Change: H9R

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 48 2.7e-23 PFAM
Pfam:RPA_interact_M 58 128 5.3e-16 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,547,442 (GRCm39) E343K possibly damaging Het
Abcc9 T C 6: 142,571,763 (GRCm39) I1087V probably benign Het
Bcam A C 7: 19,494,042 (GRCm39) Y416* probably null Het
Bhlhe22 T A 3: 18,109,960 (GRCm39) C337S probably damaging Het
Cerkl T C 2: 79,223,364 (GRCm39) D119G probably benign Het
Cog6 T C 3: 52,909,825 (GRCm39) probably benign Het
Dchs1 T C 7: 105,408,312 (GRCm39) D1840G probably damaging Het
Dhx16 G T 17: 36,196,396 (GRCm39) M521I probably benign Het
Dnaja2 A G 8: 86,273,329 (GRCm39) I196T probably damaging Het
Fbxw7 T C 3: 84,811,369 (GRCm39) Y165H possibly damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm3371 A G 14: 44,646,178 (GRCm39) Y96H probably damaging Het
H2-T10 G A 17: 36,431,608 (GRCm39) A82V possibly damaging Het
Hydin A G 8: 111,217,350 (GRCm39) T1413A possibly damaging Het
Krt23 T A 11: 99,383,665 (GRCm39) M76L possibly damaging Het
Lipe A T 7: 25,082,701 (GRCm39) M504K possibly damaging Het
Lrrc37 T A 11: 103,503,759 (GRCm39) R560S probably benign Het
Lta4h T A 10: 93,307,232 (GRCm39) probably benign Het
Ltbp2 T C 12: 84,877,522 (GRCm39) T348A probably damaging Het
Mybpc2 C A 7: 44,159,322 (GRCm39) probably benign Het
Or51r1 T C 7: 102,227,734 (GRCm39) probably null Het
Or52r1b T A 7: 102,691,357 (GRCm39) S219T probably damaging Het
Pdp2 G A 8: 105,320,824 (GRCm39) M224I probably benign Het
Pimreg C T 11: 71,935,804 (GRCm39) probably benign Het
Pld1 A T 3: 28,178,766 (GRCm39) S887C probably damaging Het
Ppp1r3g G A 13: 36,152,978 (GRCm39) A133T possibly damaging Het
Prpf8 G A 11: 75,390,818 (GRCm39) G1323D probably damaging Het
Rab3ip A G 10: 116,773,300 (GRCm39) probably null Het
Scin T C 12: 40,110,490 (GRCm39) probably benign Het
Serpinb6d A G 13: 33,855,369 (GRCm39) T348A probably benign Het
Smad3 A G 9: 63,664,835 (GRCm39) L42P probably damaging Het
Smr3a C T 5: 88,156,014 (GRCm39) probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r13 G A 5: 109,322,085 (GRCm39) T204I probably benign Het
Zfhx3 A G 8: 109,660,561 (GRCm39) N1272D probably damaging Het
Other mutations in Rpain
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0962:Rpain UTSW 11 70,865,867 (GRCm39) critical splice donor site probably null
R1529:Rpain UTSW 11 70,865,741 (GRCm39) missense probably damaging 1.00
R4010:Rpain UTSW 11 70,863,833 (GRCm39) splice site probably benign
R4950:Rpain UTSW 11 70,861,747 (GRCm39) missense probably benign 0.00
R5187:Rpain UTSW 11 70,864,658 (GRCm39) missense probably benign
R5420:Rpain UTSW 11 70,868,516 (GRCm39) splice site probably null
R7190:Rpain UTSW 11 70,862,735 (GRCm39) missense possibly damaging 0.82
R7650:Rpain UTSW 11 70,861,271 (GRCm39) unclassified probably benign
R8171:Rpain UTSW 11 70,864,724 (GRCm39) missense probably damaging 1.00
R9499:Rpain UTSW 11 70,865,816 (GRCm39) missense probably damaging 1.00
R9551:Rpain UTSW 11 70,865,816 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07